De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome by Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

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SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes by Fertleman, Caroline R., Baker, Mark D., Parker, Keith A., Moffatt, Sarah, Elmslie, Frances V., Abrahamsen, Bjarke, Ostman, Johan, Klugbauer, Norbert, Wood, John N., Gardiner, R. Mark, Rees, Michele

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A new Nav1.7 sodium channel mutation I234T in a child with severe pain by Ahn, Hye-Sook, Dib-Hajj, Sulayman D., Cox, James J., Tyrrell, Lynda, Elmslie, Frances V., Clarke, Antonia A., Drenth, Joost P.H., Woods, C. Geoffrey, Waxman, Stephen G.

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Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q by Elmslie, Frances V., Rees, Michele, Williamson, Magali P., Kerr, Michael, Kjeldsen, Marianne J., An Pang, Kiang, Sundqvist, Anders, Friis, Mögens L., Chadwick, David, Richens, Alan, Covanis, Athanasios, Santos, Manuela, Arzimanoglou, Alexis, Panayiotopoulos, Chrysostomos P., Curtis, David, Whitehouse, William P., Gardiner, R. Mark

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A new Na v 1.7 sodium channel mutation I234T in a child with severe pain by Ahn, Hye‐Sook, Dib‐Hajj, Sulayman D., Cox, James J., Tyrrell, Lynda, Elmslie, Frances V., Clarke, Antonia A., Drenth, Joost P.H., Woods, C. Geoffrey, Waxman, Stephen G.

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A new Na v1.7 sodium channel mutation I234T in a child with severe pain by Ahn, Hye-Sook, Dib-Hajj, Sulayman D., Cox, James J., Tyrrell, Lynda, Elmslie, Frances V., Clarke, Antonia A., Drenth, Joost P.H., Woods, C. Geoffrey, Waxman, Stephen G.

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A new Nav 1.7 sodium channel mutation I234T in a child with severe pain by Ahn, Hye-Sook, Dib-Hajj, Sulayman D, Cox, James J, Tyrrell, Lynda, Elmslie, Frances V, Clarke, Antonia A, Drenth, Joost P.H, Woods, C. Geoffrey, Waxman, Stephen G

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QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction by Maharaj, Avinaash V., Ishida, Miho, Rybak, Anna, Elfeky, Reem, Andrews, Afiya, Joshi, Aakash, Elmslie, Frances, Joensuu, Anni, Kantojärvi, Katri, Jia, Raina Y., Perry, John R. B., O’Toole, Edel A., McGuffin, Liam J., Hwa, Vivian, Storr, Helen L.

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype by Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

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A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype by Terhal, Paulien A., Nievelstein, Rutger Jan A. J., Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Mégarbané, André, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Annerén, Göran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, Mortier, Geert R.

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